Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

The short rib polydactyly syndromes (SRPS) are a heterogeneous group of autosomal recessive, perinatal-lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs, and poly-dactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they d...

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Detalles Bibliográficos
Autores principales: Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470332/
https://www.ncbi.nlm.nih.gov/pubmed/26077881
http://dx.doi.org/10.1038/ncomms8092

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